浙北地区小细胞低色素性贫血儿童地中海贫血的基因诊断分析  

Genetic diagnosis of thalassaemia in children with hypochromic microcytic anemia in northern Zhejiang

作　　者：陆燕 张鑫丽 杨胜 沈国松 LU Yan;ZHANG Xinli;YANG Sheng;SHEN Guosong(Department of Laboratory Medicine,Huzhou Maternal and Child Health Care Hospital,Huzhou,Zhejiang 313000,China)

机构地区：[1]浙江省湖州市妇幼保健院检验科,浙江湖州313000

出　　处：《中国优生与遗传杂志》2022年第4期699-701,共3页Chinese Journal of Birth Health & Heredity

基　　金：湖州市科技局公益性技术应用研究项目(2018GY03)。

摘　　要：目的了解浙北地区小细胞低色素性贫血患儿中地中海贫血患儿的基因类型和分布情况。方法首先对小细胞低色素性贫血的患儿进行血红蛋白电泳,对地贫表型阳性的患儿,再进行相应的中国常见地贫基因检测。结果本次研究中,共对959例小细胞低色素性贫血患儿进行血红蛋白电泳,筛查出地贫表型阳性的527例儿童进行了地贫基因检测,最后检出223例患儿携带地贫常见的突变基因类型。在小细胞低色素性贫血患儿中,地贫基因携带者占23.2%,其中α-地贫携带率5.6%(54/959),β-地贫携带率为17.4%(167/959),αβ地贫复合型携带率0.2%(2/959)。其中α-地贫检测出αα/-α^(3.7)、αα/-α^(4.2)、-α^(3.7)/α^(QS)、--^(SEA)/αα、--^(SEA)/-α^(3.7)、-α^(3.7)/α^(cs)共6种基因型,以--^(SEA)/αα为主,占79.5%(43/54);β-地贫检测出IVS-Ⅱ-654、CD41-42、CD17、CD28、CD26(G>A)、CD71-72、CD27-28、-73、-90、CD14-15(+G)、CD15-16(+G)共15种突变基因,均为杂合突变,以IVS-Ⅱ-654、CD41-42、CD17为主,分别占33.53%(56/167)、26.95%(45/167)、18.56%(31/167);αβ地贫复合基因型为αα/α^(cS)&β^(CD41-42)/β^(N)和αα/-α^(4.2)&β^(CD17)/β^(N)。结论浙北地区小细胞低色素性贫血儿童中地中海贫血的基因携带率达23.15%,携带β-地贫基因的检出率明显高于α-地贫,并且分别以IVS-Ⅱ-654和--^(SEA)/αα基因型最多见;同时为该地区贫血患儿的治疗以及地中海贫血的防治提供了科学的依据,对提高出生人口质量有着重大的经济和社会效益。Objective To investigate the gene types and distribution of thalassaemia in children with hypochromic microcytic anemia in northern Zhejiang.Methods Hemoglobin electrophoresis was performed in children with hypochromic microcytic anemia,and then,the children with positive thalassaemia phenotype were tested for the corresponding common thalassaemia genes in China.Results A total of 959 children with hypochromic microcytic anemia were subjected to hemoglobin electrophoresis in this study,527 children with positive thalassaemia phenotype were tested for thalassaemia gene.Finally,223 children were found to carry the common mutant gene types of thalassaemia.The prevalence ofα-thalassaemia was 5.6%(54/959),that ofβ-thalassaemia was 17.4%(167/959),and that ofαβthalassaemia was 0.2%(2/959).α-thalassaemia was detected 6 mutations(αα/-α^(3.7),αα/-α^(4.2),-α^(3.7)/α^(QS),--^(SEA)/αα,--^(SEA)α/-α^(3.7),-α^(3.7)/αcs),and--^(SEA)α/ααwas the dominant genotype,accounting for 79.5%(43/54).15 mutated genes including IVS-Ⅱ-654,CD41-42,CD17,CD28,CD26(G>A),CD71-72,CD27-28,-73,-90,CD14-15(+G),and CD15-16(+G)were detected byβ-thalthalene,all of which were heterozygous mutations.IVS-Ⅱ-654,CD41-42 and CD17 were dominant,accounting for 33.53%(56/167),26.95%(45/167)and 18.56%(31/167),respectively.The combined genotypes ofαβthalassaemia wereαα/α^(cS)&β^(CD41-42)/β^(N),αα/-α^(4.2)&β^(CD17)/β^(N).Conclusion The gene carrying rate of thalassaemia was 23.15%in children with hypochromic microcytic anemia in northern Zhejiang,and the detection rate ofβ-thalasseamia gene was significantly higher than that of a-thalassaemia gene,IVS-Ⅱ-654 and--^(SEA)/ααwere the most common.At the same time,it provides scientific basis for the treatment of children with anemia and the prevention and treatment of thalassaemia in this area,and has significant economic and social benefits to improve the quality of birth population.

关 键 词：儿童 小细胞低色素性贫血 地中海贫血 血红蛋白电泳 基因检测 

分 类 号：R725.5[医药卫生—儿科]